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HomeAll Cancer Mutant ClonesFGFR1 Mutants

Description of the mutations of FGFR1 (NM_023110) Mutants

Keys for Mutation Description

A.A. substitution
NT deletion
NT insertion
R280G: Arg at aa-position 280 mutated to Gly
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted


SKUMutation DescriptionAffected Codon#Affected NT#DescriptionEffect
RC403382 G48S48142G>AKallmann syndrome
RC403383 R78C78232C>TKallmann syndrome
RC403384 G97D97290G>AKallmann syndrome
RC403385 Y99C99296A>GKallmann syndrome
RC403386 C101F101302G>TKallmann syndrome
RC403387 v102I102304G>AKallmann syndrome
RC403388 S107X107320C>AKallmann syndrome
RC403389 D129A129386A>CKallmann syndrome
RC403390 A167S167499G>TKallmann syndrome
RC403391 C178S178533G>CKallmann syndrome
RC403392 D224H224670G>CKallmann syndrome
RC403393 G237D237710G>AKallmann syndrome
RC403394 L245P245734T>CKallmann syndrome
RC403395 R250W250748C>TKallmann syndrome
RC403396 P252R252755C>GPfeiffer syndrome
RC403397 R254Q254761G>AKallmann syndrome
RC403398 G270D270809G>AKallmann syndrome
RC403399 v273M273817G>AKallmann syndrome
RC403400 E274G274821A>GKallmann syndrome
RC403401 C277Y277830G>AKallmann syndrome
RC403402 P283R283848C>GKallmann syndrome
RC403403 I300T300899T>CNon-syndromic trigonocephaly
RC403404 E324X324970G>TKallmann syndrome
RC403405 N330I330989A>TOsteoglophonic dysplasia
RC403406 S332C332995C>GKallmann syndrome
RC403407 Y339C3391016A>GKallmann syndrome
RC403408 L342S3421025T>CKallmann syndrome
RC403409 A343v3431028C>TKallmann syndrome
RC403410 S346C3461037C>GKallmann syndrome
RC403411 P366L3661097C>TKallmann syndrome
RC403412 Y374C3741121A>GOsteoglophonic dysplasia
RC403413 C381R3811141T>COsteoglophonic dysplasia
RC403414 R470L4701409G>THypogonadotropic hypogonadism, idiopathic
RC403415 A520T5201558G>AKallmann syndrome
RC403416 I538v5381612A>GKallmann syndrome
RC403417 Y585X5851755C>AKallmann syndrome
RC403418 v607M6071819G>AKallmann syndrome
RC403419 H621R6211862A>GKallmann syndrome
RC403420 R622X6221864C>TKallmann syndrome
RC403421 R622G6221864C>GKallmann syndrome
RC403422 R661X6611981C>TKallmann syndrome
RC403423 W666R6661996T>AKallmann syndrome
RC403424 S685F6852054C>TKallmann syndrome
RC403425 G687R6872059G>AKallmann syndrome
RC403426 I693F6932077A>TKallmann syndrome
RC403427 G703S7032107G>AKallmann syndrome
RC403428 G703R7032107G>CKallmann syndrome
RC403429 M719R7192156T>GKallmann syndrome
RC403430 P722S7222164C>TKallmann syndrome
RC403431 Y730X7302190C>GKallmann syndrome
RC403432 P745S7452233C>TKallmann syndrome
RC403433 P772S7722314C>TKallmann syndrome
RC403434 v795I7952383G>AKallmann syndrome


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